Variant report

Variant	rs13026081
Chromosome Location	chr2:187626338-187626339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11678190	0.87[CEU][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs11685758	0.87[CEU][hapmap];0.80[TSI][hapmap]
rs12151442	0.87[CEU][hapmap];0.80[TSI][hapmap]
rs12615659	0.87[CEU][hapmap]
rs13001028	0.87[CEU][hapmap]
rs13006483	0.87[CEU][hapmap];0.81[MEX][hapmap];0.80[TSI][hapmap]
rs13028817	0.87[CEU][hapmap]
rs13030356	0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs13033579	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1448424	0.87[CEU][hapmap]
rs17750683	0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2595375	0.85[TSI][hapmap]
rs34483988	0.80[EUR][1000 genomes]
rs35986780	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3816386	0.87[CEU][hapmap];0.80[TSI][hapmap]
rs7593018	0.81[EUR][1000 genomes]
rs9333289	0.87[CEU][hapmap];0.81[MEX][hapmap]
rs9333290	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[TSI][hapmap]
rs998972	0.93[TSI][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13026081	FAM171B	cis	cerebellum	SCAN
rs13026081	FAM171B	cis	parietal	SCAN
rs13026081	WDR75	cis	parietal	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187599600-187631000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:187603200-187626400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:187603200-187626600	Weak transcription	Fetal Stomach	stomach
4	chr2:187603400-187626400	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:187603600-187626600	Weak transcription	Left Ventricle	heart
6	chr2:187605000-187626400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:187611000-187626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:187611000-187628800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:187611000-187628800	Weak transcription	HSMM	muscle
10	chr2:187612000-187636200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:187612400-187628800	Weak transcription	Fetal Kidney	kidney
12	chr2:187613200-187626400	Weak transcription	NHLF	lung
13	chr2:187613200-187630000	Weak transcription	Spleen	Spleen
14	chr2:187613400-187626600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:187613400-187626600	Weak transcription	Lung	lung
16	chr2:187613400-187626600	Weak transcription	Pancreas	Pancrea
17	chr2:187613600-187626600	Weak transcription	Aorta	Aorta
18	chr2:187613800-187626400	Weak transcription	Brain Substantia Nigra	brain
19	chr2:187613800-187626600	Weak transcription	Fetal Lung	lung
20	chr2:187613800-187634000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:187614000-187626400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:187616800-187626400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:187617200-187626400	Weak transcription	Brain Angular Gyrus	brain
24	chr2:187617200-187626600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:187617400-187626400	Weak transcription	Fetal Brain Male	brain
26	chr2:187617600-187627800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:187618400-187629200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:187619400-187626400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:187619400-187626400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:187619400-187626600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:187619400-187626600	Weak transcription	Fetal Brain Female	brain
32	chr2:187619800-187626400	Weak transcription	Placenta	Placenta
33	chr2:187620400-187626600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:187621800-187628800	Weak transcription	HSMMtube	muscle
35	chr2:187622000-187626400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:187622000-187626600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:187622000-187628600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:187622600-187629000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr2:187622600-187636200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:187622800-187626600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:187622800-187628400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:187622800-187629200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:187622800-187629400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:187623000-187626600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:187623000-187628800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:187623000-187636200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:187623200-187627200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:187623800-187626400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:187624000-187626400	Weak transcription	Brain Germinal Matrix	brain
50	chr2:187624200-187628600	Weak transcription	Psoas Muscle	Psoas

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